Today is a big day. One that was 30+ years in the making. We have finally uncovered every last bit of the human genome! I wanted to celebrate by writing a behind the scenes tribute to the amazing members of the T2T consortium, but that will have to wait. The past two years have been a whirlwind and I need some time to recuperate. For now, just the basics: links to the assembly, the browser, and the papers. And don’t worry, we didn’t forget chrY this time!

Update: These positions have now been filled The Genome Informatics Section is hiring! Come join our outstanding team at the NIH’s National Human Genome Research Institute and contribute to the development of new reference genomes and computational methods for DNA sequencing and analysis. Will consider postdoc, PhD, and engineer applications. More information and application instructions follow below.

The Telomere-to-Telomere (T2T) consortium is proud to announce our v1.0 assembly of a complete human genome. This post briefly summarizes our work over the past year, including a month-long virtual workshop in June, as we strove to complete as many human chromosomes as possible. Our progress over the summer exceeded our wildest expectations and resulted in the completion of all human chromosomes, with the only exception being the 5 rDNA arrays. Our v1.0 assembly includes more than 100 Mbp of novel sequence compared to GRCh38, achieves near-perfect sequence accuracy, and unlocks the most complex regions of the genome to functional study. We plan to release a series of preprints in the coming months that fully describe our methods and analyses, but due to its tremendous value, we are releasing the assembly immediately.

We recently participated in a collaborative effort to sequence, assemble, and analyze a human genome (GM12878) using the Oxford Nanopore MinION (Jain et al. 2018). Since then, we’ve also developed a trio-based strategy for assembling complete haplotypes from long-read data (Koren et al. 2018). Oxford Nanopore has continued to advance in the meantime, releasing several major base-calling updates. Other tools, such as Nanopolish, have also gotten faster and added new functionality, like methylation-aware polishing. So, we decided to re-analyze the dataset from the paper using the latest base calling and assembly tools. The new assembly increases the NG50 to over 10 Mbp and trio binning accurately reconstructs key MHC genes for both haplotypes.